WDR12
| WDR12 | |||
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| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 2: 202.87 – 203.01 Mb | Chr 1: 60.11 – 60.14 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Ribosome biogenesis protein WDR12 is a
Structure
Gene
The WDR12 gene resides on chromosome 2 at the band 2q33.2 and includes 13 exons.[7]
Protein
WDR12 is a member of the WD repeat WDR12/YTM1 family and contains 7
Function
The WDR12 gene is ubiquitously expressed during
Clinical significance
In humans, a large genome-wide association study (GWAS) identified several single nucleotide polymorphisms (SNPs) that were reproducible and strongly associated with a risk for coronary artery disease and myocardial infarction (i.e., heart attacks). In this large genetic study, a total of 46 genomic loci were linked to variations in susceptibility to coronary artery disease.[17] Within the 46 genome-wide SNPs, 12 indicated an association with a lipid levels and 5 showed significant association with high blood pressure. Accordingly, one of the most strongly associated variants was located on the WDR12 locus, which was also initially associated with the risk of early-onset myocardial infarction.[17] However, its exact cellular and functional role in the heart is still being identified.
Biomarker
The expression of WDR12 in the rat heart and the human heart was studied using WDR12 gene delivery to examine the direct functional and structural effects of WDR12 on cardiac maladaptive
Additionally, a multi-locus genetic risk score study, based on a combination of 27 loci including the WDR12 gene, identified individuals at increased risk for both incidence and recurrent
Interactions
Interactive Pathway Map
WDR12 participates in interactions within the major pathway of rRNA processing in the nucleolus.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000138442 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026019 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ PMID 16043514.
- ^ PMID 17353269.
- ^ a b "Entrez Gene: WDR12 WD repeat domain 12".
- ^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-08-23.
- PMID 19198609.
- ^ PMID 25748612.
- ^ "WDR12 - Ribosome biogenesis protein WDR12 - Homo sapiens (Human) - WDR12 gene & protein". www.uniprot.org. Retrieved 2016-08-23.
- ^ PMID 25915632.
- PMID 26601951.
- PMID 20959622.
- PMID 20975010.
- PMID 11827460.
- ^ PMID 19198609.
Further reading
- Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M, Lamond AI (January 2002). "Directed proteomic analysis of the human nucleolus". Current Biology. 12 (1): 1–11. S2CID 14132033.
- Nal B, Mohr E, Silva MI, Tagett R, Navarro C, Carroll P, Depetris D, Verthuy C, Jordan BR, Ferrier P (January 2002). "Wdr12, a mouse gene encoding a novel WD-Repeat Protein with a notchless-like amino-terminal domain". Genomics. 79 (1): 77–86. PMID 11827460.
- Scherl A, Couté Y, Déon C, Callé A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ (November 2002). "Functional proteomic analysis of human nucleolus". Molecular Biology of the Cell. 13 (11): 4100–9. PMID 12429849.
- Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. S2CID 4344740.
- Higa LA, Wu M, Ye T, Kobayashi R, Sun H, Zhang H (November 2006). "CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation". Nature Cell Biology. 8 (11): 1277–83. S2CID 22180568.